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Discovering disease pathways, which can be defined as sets of proteins associated with a given disease, is an important problem that has the potential to provide clinically actionable insights for disease diagnosis, prognosis, and…

Molecular Networks · Quantitative Biology 2017-12-05 Monica Agrawal , Marinka Zitnik , Jure Leskovec

Diagnosis and risk stratification of cancer and many other diseases require the detection of genomic breakpoints as a prerequisite of calling copy number alterations (CNA). This, however, is still challenging and requires time-consuming…

We consider a method to jointly estimate sparse precision matrices and their underlying graph structures using dependent high-dimensional datasets. We present a penalized maximum likelihood estimator which encourages both sparsity and…

Applications · Statistics 2016-08-22 Adria Caballe , Natalia Bochkina , Claus Mayer

Motivation. Cancer heterogeneity is observed at multiple biological levels. To improve our understanding of these differences and their relevance in medicine, approaches to link organ- and tissue-level information from diagnostic images and…

Quantitative Methods · Quantitative Biology 2020-05-19 Nova F. Smedley , Suzie El-Saden , William Hsu

Molecular phenotyping by gene expression profiling is common in contemporary cancer research and in molecular diagnostics. However, molecular profiling remains costly and resource intense to implement, and is just starting to be introduced…

Computer Vision and Pattern Recognition · Computer Science 2023-09-04 Philippe Weitz , Yinxi Wang , Kimmo Kartasalo , Lars Egevad , Johan Lindberg , Henrik Grönberg , Martin Eklund , Mattias Rantalainen

Risk prediction capitalizing on emerging human genome findings holds great promise for new prediction and prevention strategies. While the large amounts of genetic data generated from high-throughput technologies offer us a unique…

Methodology · Statistics 2021-01-29 Xiaoxi Shen , Xiaoran Tong , Qing Lu

Identification of human genes involved in the aging process is critical due to the incidence of many diseases with age. A state-of-the-art approach for this purpose infers a weighted dynamic aging-specific subnetwork by mapping gene…

Molecular Networks · Quantitative Biology 2022-05-27 Qi Li , Khalique Newaz , Tijana Milenković

Genetic risk prediction is an important component of individualized medicine, but prediction accuracies remain low for many complex diseases. A fundamental limitation is the sample sizes of the studies on which the prediction algorithms are…

Methodology · Statistics 2017-06-20 Sihai Dave Zhao

Motivation: Since susceptibility to diseases increases with age, studying aging gains importance. Analyses of gene expression or sequence data, which have been indispensable for investigating aging, have been limited to studying genes and…

Computational Engineering, Finance, and Science · Computer Science 2013-07-15 Fazle Elahi Faisal , Tijana Milenkovic

High-throughput genetic and epigenetic data are often screened for associations with an observed phenotype. For example, one may wish to test hundreds of thousands of genetic variants, or DNA methylation sites, for an association with…

Methodology · Statistics 2017-10-20 Eric F. Lock , David B. Dunson

Genome-wide association studies (GWAS) are used to identify relationships between genetic variations and specific traits. When applied to high-dimensional medical imaging data, a key step is to extract lower-dimensional, yet informative…

Quantitative Methods · Quantitative Biology 2023-09-28 Yaochen Xie , Ziqian Xie , Sheikh Muhammad Saiful Islam , Degui Zhi , Shuiwang Ji

Generalized linear mixed-effects models in the context of genome-wide association studies (GWAS) represent a formidable computational challenge: the solution of millions of correlated generalized least-squares problems, and the processing…

Mathematical Software · Computer Science 2013-05-02 Diego Fabregat-Traver , Yurii Aulchenko , Paolo Bientinesi

Disease heterogeneity has been a critical challenge for precision diagnosis and treatment, especially in neurologic and neuropsychiatric diseases. Many diseases can display multiple distinct brain phenotypes across individuals, potentially…

The objective of this research is to introduce a network specialized in predicting drugs that can be repurposed by investigating real-world evidence sources, such as clinical trials and biomedical literature. Specifically, it aims to…

Artificial Intelligence · Computer Science 2024-06-28 Ahmed Abdeen Hamed , Tamer E. Fandy

In medical genetics, each genetic variant is evaluated as an independent entity regarding its clinical importance. However, in most complex diseases, variant combinations in specific gene networks, rather than the presence of a particular…

Machine Learning · Computer Science 2023-01-30 Suha Tuna , Cagri Gulec , Emrah Yucesan , Ayse Cirakoglu , Yelda Tarkan Arguden

Biological systems are driven by intricate interactions among the complex array of molecules that comprise the cell. Many methods have been developed to reconstruct network models of those interactions. These methods often draw on large…

Molecular Networks · Quantitative Biology 2018-06-29 Marieke Lydia Kuijjer , Matthew Tung , GuoCheng Yuan , John Quackenbush , Kimberly Glass

Recent breakthroughs in cancer research have come via the up-and-coming field of pathway analysis. By applying statistical methods to prior known gene and protein regulatory information, pathway analysis provides a meaningful way to…

Genomics · Quantitative Biology 2017-10-11 Yue Zhao

Diabetes is a worldwide health issue affecting millions of people. Machine learning methods have shown promising results in improving diabetes prediction, particularly through the analysis of diverse data types, namely gene expression data.…

Machine Learning · Computer Science 2024-04-24 Rita T. Sousa , Heiko Paulheim

Cancer is one of the most feared diseases in the world it has increased disturbingly and breast cancer occurs in one out of eight women, the prediction of malignancies plays essential roles not only in revealing human genome, but also in…

Computational Engineering, Finance, and Science · Computer Science 2013-03-05 Ayad Ghany Ismaeel , Anar Auda Ablahad

Graphs are widely used as a natural framework that captures interactions between individual elements represented as nodes in a graph. In medical applications, specifically, nodes can represent individuals within a potentially large…

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